AVDB

Gene ZFYVE26 Details

It offers a comprehensive overview of all clinically relevant variants linked to a specified gene. It provides detailed metrics for each variant, including chromosomal position, HGVS c. and p. notation, allele frequencies, carrier rates, and estimated metrics for at-risk couples. By combining gene-level statistics with specific variant-level data, this page enables an in-depth analysis of how particular genes contribute to disease, thus supporting both clinical interpretation and research efforts.

Gene: ZFYVE26

Disorder: Spastic paraplegia with thin corpus callosum

Allele Frequency: 0.00251256

Carrier Rate: 0.0050125

Max At-Risk Couples rate: 0.0000251

The table below lists all clinically relevant variants identified in the ZFYVE26 gene based on the Emirati cohort dataset.

id Chromosome Position Gene Name HGVS c. (Clinically Relevant) HGVS p. (Clinically Relevant) Allele Count Allele Frequency
114 68280759 ZFYVE26 NM_015346.4:c.217C>T NP_056161.2:p.Gln73Ter 3 0.001256%
115 68280761 ZFYVE26 NM_015346.4:c.211_215delAACCC NP_056161.2:p.Asn71Serfs*31 3 0.001256%